RUNX2 c.169C>T ;(p.Q57*)

Variant ID: 6-45390440-C-T

NM_001024630.3(RUNX2):c.169C>T;(p.Q57*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.

Medicine
Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T
Publication Date: 2018-08

Variant appearance in text: CBFA1: 169C>T
PubMed Link: 30095610
Variant Present in the following documents:
View BVdb publication page



Cleidocranial Dysplasia with Normal Clavicles: A Report of a Novel Genotype and a Review of Seven Previous Cases.

Molecular Syndromology
Singh, Ankur A; Goswami, Mridula M; Pradhan, Gaurav G; Han, Min-Su MS; Choi, Je-Yong JY; Kapoor, Seema S
Publication Date: 2015-07

Variant appearance in text: CCD: 169C>T
PubMed Link: 26279653
Variant Present in the following documents:
  • Main text
View BVdb publication page